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ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). The provided information is assessed from the whole patients’ population affected by the disease, receiving standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support). Functional consequences are organized by their frequency in the patients’ population. This general information may not apply to specific cases. Some difficulties reported here can occur with a different temporality or severity degree, and others that are not listed can nevertheless arise.

Environmental factors may however require particular attention for an optimal management of this disease. This information is restricted to the consequences of the disease and its management on functioning and daily life. Clinical aspects (including fatigue, pain, impact of the disease on the patient’s psychological state) are described through other documents (i.e. Disability factsheets).

Loss of an ability
Very frequent

Temporality
Severity
Attending mainstream school
Permanent limitation
Moderate
Attending preschool
Permanent limitation
Moderate
Focusing attention
Permanent limitation
Moderate
Household
Permanent limitation
Moderate
Life management
Permanent limitation
Moderate
Memorizing and retrieving
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Low
Travelling
Permanent limitation
Moderate
Frequent

Temporality
Severity
Acquiring language
Permanent limitation
Low
Applying knowledge
Permanent limitation
Unspecified
Being aware of time
Permanent limitation
Unspecified
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Transient limitation
Moderate
Changing body position
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Moderate
Dressing/undressing
Transient limitation
Moderate
Drinking
Permanent limitation
Moderate
Drinking
Transient limitation
Moderate
Driving
Permanent limitation
Moderate
Eating
Permanent limitation
Moderate
Eating
Transient limitation
Moderate
Interacting with other people
Permanent limitation
Low
Learning to calculate
Permanent limitation
Unspecified
Learning to read
Permanent limitation
Unspecified
Learning to write
Permanent limitation
Unspecified
Maintaining a standing position
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Transient limitation
Moderate
Moving around outside the home
Permanent limitation
Moderate
Moving around within the home
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Producing messages
Permanent limitation
Unspecified
Receiving messages
Permanent limitation
Unspecified
Regulating defecation
Permanent limitation
Moderate
Regulating defecation
Transient limitation
Moderate
Regulating urination
Permanent limitation
Moderate
Regulating urination
Transient limitation
Moderate
Seeing/watching
Permanent limitation
Unspecified
Thinking and reasoning
Permanent limitation
Unspecified
Using objects
Permanent limitation
Moderate
Using transportation
Permanent limitation
Moderate
Walking
Permanent limitation
Moderate
Washing oneself
Permanent limitation
Moderate
Washing oneself
Transient limitation
Moderate
Occasional

Temporality
Severity
Acquiring language
Transient limitation
Low
Attending mainstream school
Transient limitation
Moderate
Attending preschool
Transient limitation
Moderate
Changing body position
Transient limitation
Moderate
Driving
Transient limitation
Moderate
Household
Transient limitation
Moderate
Interacting with other people
Transient limitation
Low
Life management
Transient limitation
Moderate
Maintaining a standing position
Transient limitation
Moderate
Moving around outside the home
Transient limitation
Moderate
Moving around within the home
Transient limitation
Moderate
Participating in the arts and cultural activities
Transient limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Moderate
Practicing sports
Transient limitation
Severe
Producing messages
Transient limitation
Unspecified
Receiving messages
Transient limitation
Unspecified
Seeing/watching
Transient limitation
Unspecified
Travelling
Transient limitation
Moderate
Using objects
Transient limitation
Moderate
Using transportation
Transient limitation
Moderate
Walking
Transient limitation
Moderate
Not defined

Accessing higher education
Being aware of space
Engaging in paid work in a standard environment
Participating in a conversation
Using communication devices
Environmental factors

Following are the environmental factors that should be addressed in order to improve the functioning or limit the restrictions deriving from this disease.

Food
Temperature
Source: Pr Stéphane CHABRIER[Expert]
Last update: 22/07/2015

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